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A global reference for human genetic variation
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title
A global reference for human genetic variation
(English)
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main subject
physical chromosome mapping
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genetic variation
1 reference
based on heuristic
inferred from title
author
Adam Auton
series ordinal
2
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Shane McCarthy
object named as
Shane McCarthy
series ordinal
9
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Richard M. Durbin
series ordinal
4
object named as
Richard M Durbin
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1000 Genomes Project
series ordinal
1
object named as
1000 Genomes Project Consortium
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author name string
Lisa D Brooks
series ordinal
3
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Erik P Garrison
series ordinal
5
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Hyun Min Kang
series ordinal
6
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Jan O Korbel
series ordinal
7
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Jonathan L Marchini
series ordinal
8
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Gil A McVean
series ordinal
10
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Gonçalo R Abecasis
series ordinal
11
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language of work or name
English
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publication date
1 October 2015
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published in
Nature
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volume
526
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issue
7571
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page(s)
68-74
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cites work
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7 April 2017
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7 April 2017
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
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7 April 2017
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA
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Complement factor H polymorphism in age-related macular degeneration
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7 April 2017
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
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SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
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The UK10K project identifies rare variants in health and disease
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No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
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Demography and the age of rare variants
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28 September 2017
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
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28 September 2017
A general approach for haplotype phasing across the full spectrum of relatedness
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28 September 2017
Statistical power and significance testing in large-scale genetic studies
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28 September 2017
The deleterious mutation load is insensitive to recent population history
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Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
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28 September 2017
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28 September 2017
Adaptive evolution of the FADS gene cluster within Africa
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28 September 2017
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28 September 2017
Patterns of cis regulatory variation in diverse human populations
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28 September 2017
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28 September 2017
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
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28 September 2017
Classic selective sweeps were rare in recent human evolution
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750478
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28 September 2017
Complement C3 variant and the risk of age-related macular degeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750478
retrieved
28 September 2017
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750478
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28 September 2017
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750478
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28 September 2017
Systematic investigation of cancer-associated somatic point mutations in SNP databases
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750478
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28 November 2018
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750478
retrieved
28 November 2018
Bayes factors for genome-wide association studies: comparison with P-values
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4750478
retrieved
28 November 2018
Identifiers
DOI
10.1038/NATURE15393
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
154781
ADS bibcode
2015Natur.526...68T
0 references
Dimensions Publication ID
1021812064
0 references
OpenCitations bibliographic resource ID
154781
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
154781
PMC publication ID
4750478
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
154781
PubMed publication ID
26432245
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
154781
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